S13R (p.Ser13Arg) variant of SOX10 (Transcription factor SOX-10)
S13R (p.Ser13Arg) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S13R (p.Ser13Arg) variant details
- p.Ser13Arg
- gnomAD rs1228706802
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.30
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available